Display options
Cite
Farias FHG, Benitez BA, Cruchaga C. Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases. Neurobiol Dis. 2021;151:105247doi: 10.1016/j.nbd.2020.105247.
Farias, F. H. G., Benitez, B. A., & Cruchaga, C. (2021). Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases. Neurobiology of disease, 151105247. https://doi.org/10.1016/j.nbd.2020.105247
Farias, Fabiana H G, et al. "Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases." Neurobiology of disease vol. 151 (2021): 105247. doi: https://doi.org/10.1016/j.nbd.2020.105247
Farias FHG, Benitez BA, Cruchaga C. Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases. Neurobiol Dis. 2021 Apr;151:105247. doi: 10.1016/j.nbd.2020.105247. Epub 2021 Jan 08. PMID: 33429041.
Copy Download .nbib Format: NLM
Share it on

Neurobiol Dis. 2021 Apr;151:105247. doi: 10.1016/j.nbd.2020.105247. Epub 2021 Jan 08.

Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases.

Neurobiology of disease

Fabiana H G Farias, Bruno A Benitez, Carlos Cruchaga

Affiliations

  1. Department of Psychiatry, Washington University, St. Louis, MO 63110, United States of America; NeuroGenomics and Informatics, Washington University, St. Louis, MO 63110, United States of America.
  2. Department of Psychiatry, Washington University, St. Louis, MO 63110, United States of America; NeuroGenomics and Informatics, Washington University, St. Louis, MO 63110, United States of America; Hope Center for Neurologic Diseases, Washington University, St. Louis, MO 63110, United States of America; The Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University School of Medicine, St Louis, MO, 63110, United States of America; Department of Genetics, Washington University School of Medicine, St Louis, MO, 63110, United States of America. Electronic address: [email protected].

PMID: 33429041 DOI: 10.1016/j.nbd.2020.105247

Abstract

Endophenotypes, as measurable intermediate features of human diseases, reflect underlying molecular mechanisms. The use of quantitative endophenotypes in genetic studies has improved our understanding of pathophysiological changes associated with diseases. The main advantage of the quantitative endophenotypes approach to study human diseases over a classic case-control study design is the inferred biological context that can enable the development of effective disease-modifying treatments. Here, we summarize recent progress on biomarkers for neurodegenerative diseases, including cerebrospinal fluid and blood-based, neuroimaging, neuropathological, and clinical studies. This review focuses on how endophenotypic studies have successfully linked genetic modifiers to disease risk, disease onset, or progression rate and provided biological context to genes identified in genome-wide association studies. Finally, we review critical methodological considerations for implementing this approach and future directions.

Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.

Publication Types

Grant support